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Variant : CV555263 (GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1) Homo sapiens

Symbol: CV555263
Name: GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1
Condition: not provided [RCV000683568]
Clinical Significance: pathogenic
Last Evaluated: 12/07/2017
Review Status: no assertion criteria provided
Related Genes: ACOD1   CLN5   EDNRB   FBXL3   KCTD12   MIR4500HG   MYCBP2   NDFIP2   OBI1   POU4F1   RBM26   SCEL   SLAIN1   SLITRK1   SLITRK5   SLITRK6   SPRY2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371376,942,604 - 90,660,121CLINVAR
Cytogenetic Map1313q22.2-31.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13797042
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.